Relation between a Single Base Substitution on MMP-9 promoter Region and Tumor formation in Breast Tissue

Background & Aim: MMP-9 (matrix metalloproteinase-9) is one of the most important proteolytic enzymes that plays a role in the digestion of collagen and gelatin structures around cells. A single nucleotide change of cytosine to thymine in the regulatory region of AP-1 in the promoter of this gene is associated with a number of diseases, including cancer. The aim of this study was to investigate the association of this polymorphism with tumor formation in breast tissue.Methods: In this case control study, 190 blood samples including 90 non-metastatic breast cancer patients and 100 healthy individuals were studied. For this purpose, DNA of each sample was extracted, primers were designed with for both sides of the AP-1 regulatory region in the MMP-9 gene promoter. Then, each genotype was examined by PCR-RFLP and gel electrophoresis.Results: The results of genetic testing and mammogram findings were consistent with the breast cancer tissue cancer. The risk of breast tumors formation in persons with T allele in AP-1 region was more than triple (OR = 3.27) than those with C allele (P = 0.004).Conclusion: significant relationship between the presence of T allele and the formation of breast tumor can be related with the over expression of MMP-9 gene and thus more protease function and facilitating cell proliferation, it seems that with regard to sensitivity and the allele disturbance of this polymorphism in both groups In the future it may be used as a diagnostic marker for early diagnosis of breast cancer.

کلیدواژه ها:

Breast Cancer ، Base substitution ، Matrix metalloproteinase-9